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Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2814, doi. 10.3390/ijms25052814
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- Article
Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 261, doi. 10.1002/jimd.12584
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- Article
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
- Published in:
- Human Mutation, 2017, v. 38, n. 6, p. 678, doi. 10.1002/humu.23208
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- Article
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 6, p. 917, doi. 10.1093/hmg/ddac246
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- Article